Mutations in AXIN2 Cause Familial Tooth Agenesis and Predispose to Colorectal Cancer

American Journal of Human Genetics

Volumn 74, Issue 5, 2004, Pages 1043-1050

  Lammi, Laura ^a   Arte, Sirpa ^c   Somer, Mirja ^d   Järvinen, Heikki ^c   Lahermo, Päivi ^a   Thesleff, Irma ^b   Pirinen, Sinikka ^a,c   Nieminen, Pekka ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d Vaestoliitto   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENE PRODUCT; WNT PROTEIN;

ARTICLE; AXIN2 GENE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; COLORECTAL CANCER; DISEASE ASSOCIATION; EMBRYO DEVELOPMENT; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HUMAN; HYPODONTIA; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGODONTIA; PRECANCER; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

EID: 2342613578     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/386293     Document Type: Article

References (50)

1. Alonso L, Fuchs E (2003) Stem cells in the skin: waste not, Wnt not. Genes Dev 17:1189-1200
2. Andl T, Reddy ST, Gaddapara T, Millar SE (2002) WNT signals are required for the initiation of hair follicle development. Dev Cell 2:643-653
3. Arte S (2001) Phenotypic and genotypic features of familial hypodontia. PhD thesis, Institute of Dentistry, University of Helsinki, Helsinki; http://ethesis.helsinki.fi/julkaisut/laa/hamma/vk/arte/ (accessed March 16, 2004)
4. Aulehla A, Wehrle C, Brand-Saberi B, Kemler R, Gossler A, Kanzler B, Herrmann BG (2003) Wnt3a plays a major role in the segmentation clock controlling somitogenesis. Dev Cell 4:395-406
5. Behrens J, Jerchow BA, Wurtele M, Grimm J, Asbrand C, Wirtz R, Kuhl M, Wedlich D, Birchmeier W (1998) Functional interaction of an Axin homolog, conductin, with β-catenin, APC, and GSK3β. Science 280:596-599
6. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3:285-298
7. Fitzgerald GM (1943) Multiple composite odontomes coincidental with other tumorous conditions: report of a case. J Am Dent Assoc 30:1408-1417
8. Gardner EJ (1962) Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am J Hum Genet 14:376-390
9. Giles RH, van Es JH, Clevers H (2003) Caught up in a Wnt storm: Wnt signaling in cancer. Biochim Biophys Acta 1653:1-24
10. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, et al (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107:513-523
11. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66:589-600
12. Heisenberg CP, Houart C, Take-Uchi M, Rauch GJ, Young N, Coutinho P, Masai I, Caneparo L, Concha ML, Geisler R, Dale TC, Wilson SW, Stemple DL (2001) A mutation in the Gsk3-binding domain of zebrafish Masterblind/Axin1 leads to a fate transformation of telencephalon and eyes to diencephalon. Genes Dev 15:1427-1434
13. Hsu W, Zeng L, Costantini F (1999) Identification of a domain of Axin that binds to the serine/threonine protein phosphatase 2A and a self-binding domain. J Biol Chem 274:3439-3445
14. Huelsken J, Birchmeier W (2001) New aspects of Wnt signaling pathways in higher vertebrates. Curr Opin Genet Dev 11:547-553
15. Ida M, Nakamura T, Utsunomiya J (1981) Osteomatous changes and tooth abnormalities found in the jaw of patients with adenomatosis coli. Oral Surg Oral Med Oral Pathol 52:2-11
16. Jernvall J, Thesleff I (2000) Reiterative signaling and patterning during mammalian tooth morphogenesis. Mech Dev 92:19-29
17. Jho EH, Zhang T, Domon C, Joo CK, Freund JN, Costantini F (2002) Wnt/β-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway. Mol Cell Biol 22:1172-1183
18. Kiecker C, Niehrs C (2001) A morphogen gradient of Wnt/β-catenin signalling regulates anteroposterior neural patterning in Xenopus. Development 128:4189-4201
19. Kinzler KW, Nilbert MC, Su LK, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hedge P, McKechnie D (1991) Identification of FAP locus genes from chromosome 5q21. Science 253:661-665
20. Knudsen AL, Bisgaard ML, Bulow S (2003) Attenuated familial adenomatous polyposis (AFAP): a review of the literature. Fam Cancer 2:43-55
21. Kratochwil K, Dull M, Fariñas I, Galceran J, Grosschedl R (1996) Lef1 expression is activated by BMP-4 and regulates inductive tissue interactions in tooth and hair development. Genes Dev 10:1382-1394
22. Lammi L, Halonen K, Pirinen S, Thesleff I, Arte S, Nieminen P (2003) A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet 11:866-871
23. Lathrop GM, Lalouel JM, Juliet C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446
24. Lee E, Salic A, Kruger R, Heinrich R, Kirschner MW (2003) The roles of APC and Axin derived from experimental and theoretical analysis of the Wnt pathway. PLoS Biology 1:E10
25. Leung JY, Kolligs FT, Wu R, Zhai Y, Kuick R, Hanash S, Cho KR, Fearon ER (2002) Activation of AXIN2 expression by β-catenin-T cell factor: a feedback repressor pathway regulating Wnt signaling. J Biol Chem 277:21657-21665
26. Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN (2000) Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating β-catenin/TCF signalling. Nat Genet 26:146-147
27. Lustig B, Behrens J (2003) The Wnt signaling pathway and its role in tumor development. J Cancer Res Clin Oncol 129:199-221
28. Mai M, Qian C, Yokomizo A, Smith DI, Liu W (1999) Cloning of the human homolog of conductin (AXIN2), a gene mapping to chromosome 17q23-q24. Genomics 55:341-344
29. Mao J, Wang J, Liu B, Pan W, Farr GH, Flynn C, Yuan H, Takada S, Kimelman D, Li L, Wu D (2001) Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway. Mol Cell 7:801-809
30. Nieminen P, Arte S, Tanner D, Paulin L, Alaluusua S, Thesleff I, Pirinen S (2001) Identification of a nonsense mutation in the PAX9 gene in molar oligodontia. Eur J Hum Genet 9:743-746
31. Nieminen P, Kotilainen J, Aalto Y, Knuutila S, Pirinen S, Thesleff I (2003) MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia. J Dent Res 82:1013-1017
32. Peters H, Neubuser A, Kratochwil K, Balling R (1998) Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities. Genes Dev 12:2735-2747
33. Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dube MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME (2002) Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet 32:326-330
34. Satokata I, Maas R (1994) Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356
35. Seidensticker MJ, Behrens J (2000) Biochemical interactions in the Wnt pathway. Biochim Biophys Acta 1495:168-182
36. Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337
37. Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI (2000) Mutation of PAX9 is associated with oligodontia. Nat Genet 24:18-19
38. Taniguchi K, Roberts LR, Aderca IN, Dong X, Qian C, Murphy LM, Nagorney DM, Burgart LJ, Roche PC, Smith DI, Ross JA, Liu W (2002) Mutational spectrum of β-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas. Oncogene 21:4863-4871
39. Thesleff I (2003) Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci 116:1647-1648
40. van de Water S, van de Wetering M, Joore J, Esseling J, Bink R, Clevers H, Zivkovic D (2001) Ectopic Wnt signal determines the eyeless phenotype of zebrafish Masterblind mutant. Development 128:3877-3888
41. van Genderen C, Okamura RM, Farinas I, Quo RG, Parslow TG, Bruhn L, Grosschedl R (1994) Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1- deficient mice. Genes Dev 8:2691-2703
42. Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Bénichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul M-C, Bollerslev J, Van Hul W (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72:763-771
43. Vastardis H (2000) The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 117:650-656
44. Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE (1996) A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 13:417-421
45. Wilkinson D, Green J (1990) In situ hybridization and the three-dimensional reconstruction of serial sections. In: Copp AJ, Cole DL (eds) Postimplantation mammalian embryos. Oxford University Press, London, pp 155-171
46. Wilusz CJ, Wang W, Peltz SW (2001) Curbing the nonsense: the activation and regulation of mRNA surveillance. Genes Dev 15:2781-2785
47. Wolf J, Jarvinen HJ, Hietanen J (1986) Gardner's dento-maxillary stigmas in patients with familial adenomatosis coli. Br J Oral Maxillofac Surg 24:410-416
48. Wu R, Zhai Y, Fearon ER, Cho KR (2001) Diverse mechanisms of β-catenin deregulation in ovarian endometrioid adenocarcinomas. Cancer Res 61:8247-8255
49. Yamamoto H, Kishida S, Uochi T, Ikeda S, Koyama S, Asashima M, Kikuchi A (1998) Axil, a member of the Axin family, interacts with both glycogen synthase kinase 3β and β-catenin and inhibits axis formation of Xenopus embryos. Mol Cell Biol 18:2867-2875
50. Zeng L, Fagotto F, Zhang T, Hsu W, Vasicek TJ, Perry WL, Lee JJ, Tilghman SM, Gumbiner BM, Costantini F (1997) The mouse fused locus encodes Axin, an inhibitor of the Wnt signaling pathway that regulates embryonic axis formation. Cell 90:181-192